DiseaseID 26099
胼胝体发育不全伴外生殖器异常
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
JABL99:Mental retardation with agenesis of the corpus callosum, microcephaly, limb contractures, scoliosis, coarse facies, tapered digits, and urogenital abnormalities. Males are more severely affected than females.
Relationship Network
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Disease: 1Formula: 5Symptom: 6Target: 17Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26099
- Core Entity Id
- 118667
- Source Entity Count
- 1
- Preferred Name
- Corpus Callosum, Agenesis Of, With Abnormal Genitalia
- Name Cn
- 胼胝体发育不全伴外生殖器异常
- Name Pinyin
- Pian Zhi Ti Fa Yu Bu Quan Ban Wai Sheng Zhi Qi Yi Chang
- Name En
- Corpus Callosum, Agenesis Of, With Abnormal Genitalia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Mental retardation with agenesis of the corpus callosum, microcephaly, limb contractures, scoliosis, coarse facies, tapered digits, and urogenital abnormalities. Males are more severely affected than females.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796124
Sym Map
SMDE01939
Etcm Disease
Corpus Callosum, Agenesis of, with Abnormal Genitalia
Itcmdb Generated
ITX-DISEASE-FDACE125399F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Corpus Callosum, Agenesis of, with Abnormal Genitalia Details page
Basic Information
Disease Name
Corpus Callosum, Agenesis of, with Abnormal Genitalia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases;Reproductive diseases
Disease Definition
JABL99:Mental retardation with agenesis of the corpus callosum, microcephaly, limb contractures, scoliosis, coarse facies, tapered digits, and urogenital abnormalities. Males are more severely affected than females.